Canonical Allele Identifier: CA1746776692

Gene: ATP6V0A4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138732663_138732667delinsGTGCA , CM000669.2:g.138732663_138732667delinsGTGCA	GRCh38
NC_000007.13:g.138417408_138417412delinsGTGCA , CM000669.1:g.138417408_138417412delinsGTGCA	GRCh37
NC_000007.12:g.138067948_138067952delinsGTGCA	NCBI36
NG_008145.1:g.70530_70534delinsTGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.1908+210_1908+214delinsTGCAC MANE Select	ENSP00000308122.2:n.1908+210_1908+214delinsTGCAC
ENST00000478480.2:c.1134+210_1134+214delinsTGCAC	ENSP00000495261.1:n.1134+210_1134+214delinsTGCAC
ENST00000644341.1:c.1134+210_1134+214delinsTGCAC	ENSP00000495642.1:n.1134+210_1134+214delinsTGCAC
ENST00000645515.1:c.1908+210_1908+214delinsTGCAC	ENSP00000496421.1:n.1908+210_1908+214delinsTGCAC
ENST00000647427.1:c.801+210_801+214delinsTGCAC	ENSP00000496259.1:n.801+210_801+214delinsTGCAC
ENST00000310018.6:c.1908+210_1908+214delinsTGCAC	ENSP00000308122.2:n.1908+210_1908+214delinsTGCAC
ENST00000353492.4:c.1908+210_1908+214delinsTGCAC	ENSP00000253856.6:n.1908+210_1908+214delinsTGCAC
ENST00000393054.5:c.1908+210_1908+214delinsTGCAC	ENSP00000376774.1:n.1908+210_1908+214delinsTGCAC
NM_020632.2:c.1908+210_1908+214delinsTGCAC	NP_065683.2:n.1908+210_1908+214delinsTGCAC
NM_130840.2:c.1908+210_1908+214delinsTGCAC	NP_570855.2:n.1908+210_1908+214delinsTGCAC
NM_130841.2:c.1908+210_1908+214delinsTGCAC	NP_570856.2:n.1908+210_1908+214delinsTGCAC
XM_005250393.1:c.1908+210_1908+214delinsTGCAC	XP_005250450.1:n.1908+210_1908+214delinsTGCAC
XM_005250394.2:c.1908+210_1908+214delinsTGCAC	XP_005250451.1:n.1908+210_1908+214delinsTGCAC
XM_005250394.3:c.1908+210_1908+214delinsTGCAC	XP_005250451.1:n.1908+210_1908+214delinsTGCAC
NM_020632.3:c.1908+210_1908+214delinsTGCAC MANE Select	NP_065683.2:n.1908+210_1908+214delinsTGCAC
NM_130840.3:c.1908+210_1908+214delinsTGCAC	NP_570855.2:n.1908+210_1908+214delinsTGCAC
NM_130841.3:c.1908+210_1908+214delinsTGCAC	NP_570856.2:n.1908+210_1908+214delinsTGCAC